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The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

R191

Alpha-1-antitrypsin deficiency Respiratory

R330

Alveolar capillary dysplasia with misalignment of pulmonary veins Respiratory

R167

Autosomal recessive primary hypertrophic osteoarthropathy Dermatology

R333

Central congenital hypoventilation Respiratory

R185

Cystic fibrosis carrier testing Core

R184

Cystic fibrosis diagnostic test Core

R186

Hereditary haemorrhagic telangiectasia Respiratory

R268

Kagami-Ogata syndrome – paternal uniparental disomy 14 Endocrinology

R190

Pneumothorax – familial Respiratory

R426

Pulmonary alveolar microlithiasis Respiratory

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